Maarit M Peippo

Summary

Affiliation: The Family Federation of Finland
Country: Finland

Publications

  1. pmc 9q22 Deletion--first familial case
    Linda Siggberg
    Department of Pathology, Haartman Institute and HUSLAB, University of Helsinki and Helsinki University Central Hospital, Haartmaninkatu 3, 00014 Helsinki, Finland
    Orphanet J Rare Dis 6:45. 2011
  2. doi request reprint Weismann-Netter syndrome and mental retardation: a new patient and review of the literature
    Maarit Peippo
    Department of Medical Genetics, The Family Federation of Finland, Helsinki, Finland
    Am J Med Genet A 149:2593-601. 2009
  3. ncbi request reprint PAK3 related mental disability: further characterization of the phenotype
    Maarit Peippo
    Department of Medical Genetics, Family Federation of Finland, Helsinki, Finland
    Am J Med Genet A 143:2406-16. 2007
  4. ncbi request reprint Pitt-Hopkins syndrome in two patients and further definition of the phenotype
    Maarit M Peippo
    Department of Medical Genetics, The Family Federation of Finland, Helsinki, Finland
    Clin Dysmorphol 15:47-54. 2006
  5. ncbi request reprint De novo paracentric inversion 14q13q24.1 in a patient with severe involuntary movements, epilepsy, oligodontia and dysmorphic features
    M Peippo
    Department of Medical Genetics, The Family Federation of Finland, 00100 Helsinki, Finland
    Genet Couns 15:341-6. 2004
  6. ncbi request reprint Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females
    Minna H Pöyhönen
    Department of Medical Genetics, The Family Federation of Finland, Helsinki, Finland
    Clin Dysmorphol 13:85-90. 2004
  7. ncbi request reprint The first Finnish patient with the Floating-Harbor syndrome: the follow-up of eight years
    Sirpa Ala-Mello
    Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland
    Am J Med Genet A 130:317-9. 2004
  8. ncbi request reprint Clinical and mutational spectrum of Mowat-Wilson syndrome
    Christiane Zweier
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Eur J Med Genet 48:97-111. 2005
  9. pmc Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
    Guy Froyen
    Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, B 3000 Leuven, Belgium
    Am J Hum Genet 82:432-43. 2008
  10. pmc Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11
    Christian R Marshall
    Program in Genetics and Genomic Biology and The Centre for Applied Genomics, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada
    Am J Hum Genet 83:106-11. 2008

Collaborators

Detail Information

Publications11

  1. pmc 9q22 Deletion--first familial case
    Linda Siggberg
    Department of Pathology, Haartman Institute and HUSLAB, University of Helsinki and Helsinki University Central Hospital, Haartmaninkatu 3, 00014 Helsinki, Finland
    Orphanet J Rare Dis 6:45. 2011
    ..Most associate with Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS, MIM #109400) due to haploinsufficiency of the PTCH1 gene (MIM *601309)...
  2. doi request reprint Weismann-Netter syndrome and mental retardation: a new patient and review of the literature
    Maarit Peippo
    Department of Medical Genetics, The Family Federation of Finland, Helsinki, Finland
    Am J Med Genet A 149:2593-601. 2009
    ..He also had postnatal growth deceleration with partially corrective pubertal growth, normal head size and normal brain structures on MRI. We review the WNS literature...
  3. ncbi request reprint PAK3 related mental disability: further characterization of the phenotype
    Maarit Peippo
    Department of Medical Genetics, Family Federation of Finland, Helsinki, Finland
    Am J Med Genet A 143:2406-16. 2007
    ....
  4. ncbi request reprint Pitt-Hopkins syndrome in two patients and further definition of the phenotype
    Maarit M Peippo
    Department of Medical Genetics, The Family Federation of Finland, Helsinki, Finland
    Clin Dysmorphol 15:47-54. 2006
    ..The electroencephalography and brain magnetic resonance imaging findings appear to be further diagnostic signs in Pitt-Hopkins syndrome, which is also one of the syndromes associated with Hirschsprung disease...
  5. ncbi request reprint De novo paracentric inversion 14q13q24.1 in a patient with severe involuntary movements, epilepsy, oligodontia and dysmorphic features
    M Peippo
    Department of Medical Genetics, The Family Federation of Finland, 00100 Helsinki, Finland
    Genet Couns 15:341-6. 2004
    ..The observations in the two patients suggest that this chromosomal rearrangement is associated with a congenital complex movement disorder...
  6. ncbi request reprint Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females
    Minna H Pöyhönen
    Department of Medical Genetics, The Family Federation of Finland, Helsinki, Finland
    Clin Dysmorphol 13:85-90. 2004
    ..All of them had personality problems like aggressiveness, stubborn temperament or tendency to withdraw. Brain MRI showed thick and short corpus callosum. We believe that these patients represent a new syndrome of unknown aetiology...
  7. ncbi request reprint The first Finnish patient with the Floating-Harbor syndrome: the follow-up of eight years
    Sirpa Ala-Mello
    Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland
    Am J Med Genet A 130:317-9. 2004
    ..We also discuss the diagnostic criteria of FHS, with a critical review of the literature...
  8. ncbi request reprint Clinical and mutational spectrum of Mowat-Wilson syndrome
    Christiane Zweier
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Eur J Med Genet 48:97-111. 2005
    ..The lack of missense mutations in MWS and MWS-like patients suggests there may be other, as yet unrecognized phenotypes, associated with missense mutations of this transcription factor...
  9. pmc Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
    Guy Froyen
    Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, B 3000 Leuven, Belgium
    Am J Hum Genet 82:432-43. 2008
    ..Our findings demonstrate that an increased gene dosage of HSD17B10, HUWE1, or both contribute to the etiology of XLMR and suggest that point mutations in HUWE1 are associated with this disease too...
  10. pmc Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11
    Christian R Marshall
    Program in Genetics and Genomic Biology and The Centre for Applied Genomics, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada
    Am J Hum Genet 83:106-11. 2008
    ..MAGI2 encodes the synaptic scaffolding protein membrane-associated guanylate kinase inverted-2 that interacts with Stargazin, a protein also associated with epilepsy in the stargazer mouse...
  11. doi request reprint Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly
    Sirpa Ala-Mello
    Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland
    Am J Med Genet A 146:2490-4. 2008
    ..In addition to OAV she developed myelodysplasia treated with bone marrow transplantation. We discuss her clinical findings with reference to her karyotype findings and review the patients with OAV and a terminal deletion of 5p...